Resumen

COURVILLE, Karen; SAMUDIO, Virginia Núñez  y  LANDIRES, Iván. Alportsyndrome: anupdate in pathophysiology, genetics, diagnosis, and treatment. Rev. nefrol. dial. traspl. [online]. 2021, vol.41, n.1, pp.81-90. ISSN 2346-8548.

Alportsyndromeis a renal hereditarydisease of progressivecourse, causedby geneticdefects in the genes responsible for the constitution of the glomerular basementmembrane. Mutation in genes fortype IV collagen occurs at COL 4A3/4/5, whichproducesinterference in thecorrectmembranearrangement. Clinicalpresentationmayvarydependingonmutationtype. Afterconfirming diagnosis, withgenetic studiesorbiopsies, managementincludesidentification of risk and treatment. Reduction of proteinuria, as managementguidelinessuggest, has resulted in delay in progressiontochronickidneydisease. In themeantime, studiesfor new treatmentdevelopments are in progress, directedtospecificreceptors.

Palabras clave : glomerular basementmembrane; microscopic hematuria; collagen; proteinuria.

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